Article
Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.
The Journal of clinical endocrinology and metabolism - 1 Feb 2010
Mantovani Giovanna, de Sanctis Luisa, Barbieri Anna Maria, Elli Francesca M, Bollati Valentina, Vaira Valentina, Labarile Pamela, Bondioni Sara, Peverelli Erika, Lania Andrea G, Beck-Peccoz Paolo, Spada Anna
Abstract excerpt
CONTEXT: The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and -Ib, are caused by mutations in GNAS exons 1-13 and methylation defects in the imprinted GNAS cluster, respectively. PHP-Ia patients show Albright hereditary osteodystrophy (AHO) and resistance toward PTH and additional hormones, whereas PHP-Ib patients do not have AHO, and hormone resistance appears to be limited to PTH and TSH....
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